LEOPARD Syndrome with PTPN11 Gene Mutation in Three Family Members Presenting with Different Phenotypes.

LEOPARD syndrome (LS) is a rare autosomal dominant disorder that is characterized by multiple lentigines and various congenital anomalies. The clinical diagnosis of LS requires molecular confirmation. The most frequently reported mutations in LS patients are in the protein tyrosine phosphatase nonreceptor type 11 gene, PTPN11 . Herein, we report the cases of three family members from two generations who are affected by LS and all carry the PTPN11 mutation c.836A > G (p.Tyr279Cys), identified by next-generation sequencing, while exhibiting different phenotypes.

Superior vena cava stenting in IgG4-associated mediastinal fibrosis.

We report a rare case of IgG4-associated mediastinal fibrosis with complete superior vena cava (SVC) obstruction successfully managed by thrombolysis and stenting in a 33-year-old male. The patient presented with a mediastinal mass lesion with clinical findings of SVC obstruction. Surgical biopsy of the mediastinal mass lesion with histology and immunohistochemistry staining established the diagnosis of IgG4 associated mediastinal fibrosis. The patient was treated with a systemic steroid and rituximab, but despite treatment, SVC obstruction and thromboses persisted, surgical intervention was declined by the thoracic surgeon due to extensive mediastinal fibrosis and an expected poor outcome. Percutaneous SVC angioplasty, intravascular thrombolysis with tissue plasminogen activator and afterward stent placement was done by the interventional radiology service. This intervention is rare and possibly was lifesaving as it restored complete patency of the SVC. Our case is probably the first with IgG4 mediastinitis and SVC complete obstruction relieved by intravascular thrombolysis and SVC stent placement. It demonstrates that SVC stenting can relieve SVC obstruction in patients with a high risk of surgery either due to medical comorbidities or an expected high surgical risk like bleeding in the mediastinal fibrosis, which in our case of SVC obstruction was due to a nonoperable mediastinal tumor. SIMILAR CASES PUBLISHED: None to our knowledge.

Prevalence of self-reported computer vision syndrome symptoms and its associated factors among university students.

PURPOSE: To determine the prevalence of symptoms of computer vision syndrome and to identify its associated factors. The secondary objective was to assess knowledge and practices related to preventing computer vision syndrome symptoms. METHODS: The data for this cross-sectional study were collected through a self-administered questionnaire distributed to 713 female undergraduates studying business and medicine in Saudi Arabia. The questionnaire included computer vision syndrome validated symptoms and factors associated with computer vision syndrome development. RESULTS: The most common symptom due to prolonged computer use was neck or shoulder pain, reported by 82.2% of the subjects. Overall, 66.5% of the subjects suffered from headache and 51.5% from dry eyes, in mild, moderate, or severe form. Business students were 1.6 times as likely as medical students to suffer from computer vision syndrome (odds ratio = 1.65; 95% confidence interval: 1.22, 2.24). The use of electronic devices for more than 5 h (odds ratio = 1.52; 95% confidence interval: 1.07, 2.16) was also associated with experiencing computer vision syndrome symptoms. Regarding computer vision syndrome prevention, factors such as hours of use, screen distance, screen brightness, and room illumination showed statistically significant difference between the two groups (p < 0.0001). CONCLUSION: The prevalence of computer vision syndrome symptoms was significantly higher among business students, who reported lower awareness and poor practice measures of computer use recommendations. Relevant awareness campaigns focusing on the appropriate use of computers are highly recommended.

Hodgkin's lymphoma in a patient on adalimumab treatment for psoriasis.

Adalimumab is a human monoclonal antibody which targets tumor necrosis factor (TNF)-alpha. It is produced by recombinant DNA technology, using a mammalian cell expression system and is widely-known to treat a number of immune-mediated conditions, including psoriasis. There has been a growing concern regarding the possible association between TNF-alpha inhibitors and malignancy. In this case report, we describe the case of a 20-year-old woman, known to have been suffering from chronic plaque psoriasis for 12 years, and who developed Hodgkin's lymphoma within five weeks of beginning adalimumab treatment.